Variant report

Variant	rs9635524
Chromosome Location	chr16:71804956-71804957
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 79 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:74)

rs_ID	r²[population]
rs1058750	1.00[ASN][1000 genomes]
rs10852502	1.00[ASN][1000 genomes]
rs10852503	1.00[ASN][1000 genomes]
rs11075894	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11075898	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11075901	0.81[EUR][1000 genomes]
rs11075904	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11075905	0.84[EUR][1000 genomes]
rs11862723	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12929547	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1364210	1.00[ASN][1000 genomes]
rs1392484	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1423983	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2032918	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2052584	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2052585	1.00[ASN][1000 genomes]
rs2113223	1.00[ASN][1000 genomes]
rs2133773	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2247603	1.00[ASN][1000 genomes]
rs2334877	0.91[AFR][1000 genomes];0.86[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2334880	1.00[ASN][1000 genomes]
rs4354946	1.00[ASN][1000 genomes]
rs4788548	1.00[ASN][1000 genomes]
rs4788550	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4788553	0.88[AFR][1000 genomes];0.97[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4788557	0.96[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4788559	0.84[EUR][1000 genomes]
rs4788810	1.00[ASN][1000 genomes]
rs4788813	1.00[ASN][1000 genomes]
rs4788820	1.00[ASN][1000 genomes]
rs4788822	1.00[ASN][1000 genomes]
rs4788823	1.00[ASN][1000 genomes]
rs4788828	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4788830	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6499526	1.00[ASN][1000 genomes]
rs6499527	1.00[ASN][1000 genomes]
rs6499528	1.00[ASN][1000 genomes]
rs6499529	0.81[AFR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6499530	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6499531	1.00[ASN][1000 genomes]
rs6499534	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6499538	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6499540	0.94[AFR][1000 genomes];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7186112	0.86[AFR][1000 genomes];0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7187948	0.81[AFR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7188675	1.00[ASN][1000 genomes]
rs7190487	1.00[ASN][1000 genomes]
rs7193549	1.00[ASN][1000 genomes]
rs7195059	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7202479	0.82[AFR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7204118	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7204608	1.00[ASN][1000 genomes]
rs7204967	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7204992	1.00[ASN][1000 genomes]
rs7206470	0.83[ASN][1000 genomes]
rs7359478	0.93[AFR][1000 genomes];0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8044144	0.90[AMR][1000 genomes];0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs8051968	0.86[AFR][1000 genomes];0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8052910	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8053186	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8053745	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8055419	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs8062188	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs889568	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9302630	0.97[AMR][1000 genomes]
rs979790	1.00[ASN][1000 genomes]
rs9888756	0.81[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs9929840	0.93[EUR][1000 genomes]
rs9929985	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9930015	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs9931074	1.00[ASN][1000 genomes]
rs9934301	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9937511	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9939458	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3347477	chr16:71555148-71985177	Weak transcription Active TSS Flanking Active TSS Strong transcription Enhancers Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
2	esv1817133	chr16:71705908-71837477	ZNF genes & repeats Strong transcription Enhancers Weak transcription Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
3	nsv948468	chr16:71727571-72651914	Enhancers Weak transcription Strong transcription Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	89 gene(s)	inside rSNPs	diseases
4	esv1819402	chr16:71755852-71816899	Flanking Active TSS Strong transcription Enhancers Weak transcription Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	n/a
5	esv1815957	chr16:71790812-71816899	Genic enhancers Strong transcription Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	n/a

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs9635524	MARVELD3	cis	Skin Sun Exposed Lower leg	GTEx
rs9635524	PHLPP2	cis	Muscle Skeletal	GTEx

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:71761000-71805600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr16:71762200-71811400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr16:71763200-71812600	Strong transcription	Primary neutrophils fromperipheralblood	blood
4	chr16:71763600-71812400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
5	chr16:71764000-71813000	Strong transcription	Primary monocytes fromperipheralblood	blood
6	chr16:71770800-71810600	Strong transcription	HUES64 Cell Line	embryonic stem cell
7	chr16:71770800-71813800	Strong transcription	Liver	Liver
8	chr16:71771000-71812200	Strong transcription	Placenta	Placenta
9	chr16:71779600-71841800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr16:71780000-71821400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
11	chr16:71783800-71820600	Weak transcription	Psoas Muscle	Psoas
12	chr16:71784000-71811200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr16:71785400-71808800	Strong transcription	Primary T cells fromperipheralblood	blood
14	chr16:71786400-71805200	Strong transcription	Duodenum Mucosa	Duodenum
15	chr16:71786600-71809800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
16	chr16:71788000-71806600	Weak transcription	Stomach Mucosa	stomach
17	chr16:71792600-71806600	Weak transcription	Fetal Brain Male	brain
18	chr16:71792800-71805200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
19	chr16:71792800-71809600	Weak transcription	Pancreatic Islets	Pancreatic Islet
20	chr16:71792800-71811000	Weak transcription	Small Intestine	intestine
21	chr16:71793200-71808800	Strong transcription	Fetal Intestine Large	intestine
22	chr16:71793200-71830400	Weak transcription	Fetal Heart	heart
23	chr16:71794000-71808600	Strong transcription	Primary B cells from peripheral blood	blood
24	chr16:71797000-71807200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr16:71797000-71807200	Weak transcription	Esophagus	oesophagus
26	chr16:71797000-71807200	Weak transcription	Gastric	stomach
27	chr16:71797000-71807200	Weak transcription	Placenta Amnion	Placenta Amnion
28	chr16:71797000-71807200	Weak transcription	NHLF	lung
29	chr16:71797000-71823600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr16:71797200-71807200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
31	chr16:71797200-71807200	Weak transcription	Aorta	Aorta
32	chr16:71797200-71807200	Weak transcription	Spleen	Spleen
33	chr16:71797200-71807600	Weak transcription	Right Ventricle	heart
34	chr16:71797200-71811200	Weak transcription	Pancreas	Pancrea
35	chr16:71797400-71812800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
36	chr16:71798400-71822200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
37	chr16:71798600-71806600	Weak transcription	Cortex derived primary cultured neurospheres	brain
38	chr16:71799000-71805400	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
39	chr16:71799000-71810200	Strong transcription	Fetal Muscle Trunk	muscle
40	chr16:71799600-71806400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
41	chr16:71799800-71807400	Weak transcription	Colonic Mucosa	Colon
42	chr16:71800400-71810600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
43	chr16:71801000-71805200	Strong transcription	Fetal Brain Female	brain
44	chr16:71801000-71805400	Strong transcription	Sigmoid Colon	Sigmoid Colon
45	chr16:71801000-71815600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
46	chr16:71801200-71809400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
47	chr16:71801400-71808400	Strong transcription	Fetal Stomach	stomach
48	chr16:71801400-71814800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
49	chr16:71801600-71811200	Weak transcription	NHEK	skin
50	chr16:71801800-71807200	Weak transcription	Brain Angular Gyrus	brain

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